Article
Mitochondrial DNA mutations in diseases of energy metabolism.
Journal of bioenergetics and biomembranes - 1 Jun 1994
Wallace D C
Abstract excerpt
A variety of degenerative diseases involving deficiencies in mitochondrial bioenergetics have been associated with mitochondrial DNA (mtDNA) mutations. Maternally inherited mtDNA nucleotide substitutions range from neutral polymorphisms to lethal mutations. Neutral polymorphisms are ancient, having accumulated along mtDNA lineages, and thus correlate with ethnic and geographic origin. Mildly deleterious base...
Topics
- Aging
- Chromosome Aberrations
- DNA, Mitochondrial
- Energy Metabolism
- Humans
- Metabolic Diseases
- Mitochondrial Myopathies
- Mutation